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Barbara is a photographer specialising in portraiture and weddings. Her first book, Faces of Shoreditch is a collection of documentary portraits of people from the London district, and was published by Amberley Books in 2017.

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Finn: Congenital Disorders of Glycosylation (CDG)

Living with Congenital Disorders of Glycosylation: Finn

Finn is 8 years old, and lives in the Worcestershire town of Bromsgrove with his parents Julia and William, older brother Leo and sister Tara. Despite his limited mobility (he can crawl but he can't walk) he had bags of energy during my visit and was very playful and rather funny! It was such a pleasure to meet him and his family - they have their challenges but Finn seems as happy as any 8 year old little boy - no doubt due to his attentive and loving family who are an inspiration to all of us.

Congenital Disorders of Glycosylation (CDG) Facts

Prevalence: Approx. just 1,000 cases worldwide; around 70 in the UK.Cause: GeneticDescription: CDG is a complex metabolic disease affecting all areas of the body. Glycosylation is an enzymatic process and is critical to normal organ development, especially for the development of the nervous system. In CDG the process of glycosylation is impaired. There are over 50 different subtypes, but even patients with the same subtype can show very different symptoms.Symptoms: Physical and cognitive disability; problems with digestion, food absorption and glandular function; poor immune system; speech and language difficulties; poor balance and motor control.; ongoing developmental impairment; vision problems; hearing impairment; seizure disorders; and stroke-like episodes. Infant mortality is as high as 20% in one subtype.Treatment: Symptomatic treatment only, as there is no cure or treatment for the underlying cause.Source: www.cdg-uk.org

Dad William gets Finn ready for his lunch of a Weetabix and banana milkshake.

William works part time at Finn's school to help during his mealtimes and ensure he eats properly.

The family's 9 month old yorkie, Pancake.

Finn goes to a school for children with special physical needs. But they still have to follow the national curriculum.

Finn is lucky - he doesn't need a feeding tube like many CDG patients.
But he can't eat much in one go and is on a high protein diet.

"I'm finished!" (in Signalong sign language)

Finn got taught some Signalong because nobody knew if he'd be verbal or not when he got older.

He now uses a mix of both ways of communicating.

Julia: "How did you like the milkshake? Thumbs up? Thumbs down? What's the score out of 10?"

Finn: (thumbs down and shows 0)

Julia: "What? Zero?! Oh dear, you really didn't like it...!"

Julia: "OK Finn, let's get you dressed properly now..." (tickles him)

Julia: "Are your feet clean? Or are they stinky?"

Finn: "STINKY!!"

Julia: "Come on, I'll race you to the ball pit! I'm going to win!!"

Finn: "No! I'm gonna win! I'm gonna win!"

Julia: "Ah, you won..."

Finn: "How do you juggle?"

Julia: "Like this, look... you pick up the balls and throw them into the air."

Finn: "Nnnn... I can't juggle!"

Barbara: "Maybe you can just throw one ball in the air to start with"

Finn: "Yes!"

"I can just throw them!"

Julia: "Don't worry about the mess. He does this about three times a day..."

This quilt was made specially for Finn by volunteers from Love Quilts UK featuring his favourite things - numbers, mostly, and various animals and letters.

"Let's throw a ball to Pancake"

"Nooo! She licked me!"

Julia: "Where's the number 5?"

Finn: "I'm doing a poopoo!"

Julia: "Oh great, thanks for telling me while it happens!"

Julia: "OK, let's check you then..."

Julia: "You lied, you didn't do a poopoo did you! You're just playing around!"

Finn: "What's that?"

Julia: "That's Tara's netball hoop."

Finn: "Can I throw a ball?"

Julia: "We might need to make it a bit shorter for you!"

"Let's get that little ball and throw it to each other"

"I want to watch TV now... can I watch George?"

Finn loves to watch Curious George, the cartoon. When he gets a bit tired he'll usually ask to watch TV.

This pose is apparently comfortable for him!

A display of family photos, with all three children's pictures.

Julia: "It can be a bit hard on the other two, because of how Finn is the 'special' one, they can sometimes feel neglected. I try to make time to sometimes just do Leo-things or Tara-things with them separately, too. I recently got tickets to London to the Harry Potter play as a treat for them, so we're going down for a weekend, without Finn, to have some time to ourselves - it's important to do that as well."

"This is an apple, like George has!"

Finn: "Can I have an iPhone for my birthday?"

Julia: "Sure, we'll see..."

In fact these are fake display phones from the phone shop that Julia brought home for Finn! They look just like the real thing - and they keep Finn happy, helping his parents avoid giving him their actual phones!

Julia: "Who are you calling?"

Finn: "Grandad"

Julia (pretending to be Grandad on the phone): "What;s your mum doing, Finn?"

Finn: "Nothing!"

Julia (as Grandad): Nothing eh? Sounds about right for your mother!

(Finn laughs)

Julia: "Nooo, gross, don't snot on my arm! Wipe it off!"

(Finn deliberately continues)

Julia: "It can seem like he's not paying attention sometimes, but he must do, at school too, because for example recently he's been saying how Jesus died like this on the cross! Also the other day we pretended to be on the bus and I asked where the bus is going... he said let's go to Pakistan! I don't know where he gets this stuff from!"

"Let me give you a kiss, Finn! Where do you want your kiss?"

(Finn resists)

Finn: "Umm... On my NOTHING!" (laughs)

Julia: Ah, you're too smart!!

"Do the walking man instead!"

Finn: "Can I have those?" (puts on all Julia's wristbands)

CDG UK represent!

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If you've enjoyed this glimpse into Finn's life, and want to spread awareness of CDG and rare diseases in general, it's really easy to show your support by sharing this article simply by clicking one of the social buttons below!

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Donations are also very welcome both to Findacure and CDG UK to support their efforts.

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About this project

The 1 in 17 project focuses on the individuals behind rare disease statistics and numbers. The goal is to raise awareness of the paradox of how common rare diseases actually are, by creating a candid, honest photographic essay about each person. How they spend their days, the challenges they invariably have, but also who they are as people - looking beyond their condition.

The photos will also be made freely available to any related organisation who wants to use them for their own website or social media in connection with the project.

If you're interested in potentially taking part, or would like more information, please email 1in17project@gmail.com.

In support of...

Findacure is a UK charity that builds the rare diseases community to drive research and develop treatments.
Rare diseases are defined in the EU as conditions affecting less than 1 in 2000 people — though they come much rarer than this. Because of their small patient populations, rare diseases are often assumed to be unimportant. This leads to a lack of support for patients and families, neglect by the medical profession, and little ongoing research into treatments.
Findacure empowers rare disease patient groups through a series of training programmes, and encourages collaboration between rare disease stakeholders to advance research.